Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Itga2b'

367431

Institutional Source

Beutler Lab

Gene Symbol

Itga2b

Ensembl Gene

ENSMUSG00000034664

Gene Name

integrin alpha 2b

Synonyms

CD41, GpIIb, platelet glycoprotein IIb, alphaIIb, GP IIb

MMRRC Submission

042410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102344123-102360709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102351582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 581 (F581S)

Ref Sequence

ENSEMBL: ENSMUSP00000099375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103086]

AlphaFold

Q9QUM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103086
AA Change: F581S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: F581S

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Int_alpha	46	103	2.34e-10	SMART
Int_alpha	261	311	1.3e-3	SMART
Int_alpha	315	376	4.9e-13	SMART
Int_alpha	382	438	4.34e-14	SMART
Int_alpha	443	494	4.05e-5	SMART
low complexity region	552	567	N/A	INTRINSIC
SCOP:d1m1xa2	635	770	1e-48	SMART
SCOP:d1m1xa3	775	995	3e-66	SMART
Pfam:Integrin_alpha	1015	1029	5.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151625

Meta Mutation Damage Score

0.7960

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,962,341 (GRCm39)	V503A	possibly damaging	Het
Agps	T	A	2: 75,722,199 (GRCm39)	F463Y	possibly damaging	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Amigo3	A	T	9: 107,930,734 (GRCm39)	L52F	probably damaging	Het
Anapc1	T	C	2: 128,527,980 (GRCm39)		probably benign	Het
Ankrd36	G	T	11: 5,540,870 (GRCm39)	C312F	possibly damaging	Het
Asic2	A	C	11: 80,862,318 (GRCm39)	D226E	probably benign	Het
Atp8b2	T	A	3: 89,864,374 (GRCm39)	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,092,642 (GRCm39)	Y495C	probably damaging	Het
Ccdc51	A	G	9: 108,919,978 (GRCm39)	T125A	probably benign	Het
Ccser1	A	G	6: 61,288,485 (GRCm39)	Y216C	possibly damaging	Het
Cimap1b	A	G	15: 89,263,326 (GRCm39)	I19T	probably damaging	Het
Cntfr	A	T	4: 41,663,282 (GRCm39)	I175N	possibly damaging	Het
Cox10	G	A	11: 63,854,989 (GRCm39)	R431W	probably benign	Het
Cubn	T	C	2: 13,319,578 (GRCm39)	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,774 (GRCm39)	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,540,986 (GRCm39)	G125D	probably benign	Het
Dscaml1	C	T	9: 45,581,404 (GRCm39)	R408C	probably damaging	Het
Duox2	A	T	2: 122,115,397 (GRCm39)	S1052T	probably benign	Het
Ecm1	A	G	3: 95,645,273 (GRCm39)		probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Epb41l1	T	A	2: 156,371,344 (GRCm39)	M727K	probably benign	Het
Exosc9	T	C	3: 36,607,984 (GRCm39)	V64A	probably damaging	Het
Ezh2	A	T	6: 47,517,630 (GRCm39)	I564N	probably damaging	Het
Fam89b	C	A	19: 5,779,482 (GRCm39)	R25L	probably damaging	Het
Fgr	C	T	4: 132,714,602 (GRCm39)	T98M	probably damaging	Het
Fhip2b	T	A	14: 70,825,727 (GRCm39)	D351V	probably damaging	Het
Gapvd1	A	G	2: 34,581,193 (GRCm39)	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,213,837 (GRCm39)	I544F	possibly damaging	Het
Gli2	C	A	1: 118,910,318 (GRCm39)		probably benign	Het
Gm9934	A	G	7: 92,702,192 (GRCm39)		noncoding transcript	Het
Greb1	A	T	12: 16,731,357 (GRCm39)	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,272,414 (GRCm39)	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,367,698 (GRCm39)	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Itsn2	T	A	12: 4,677,892 (GRCm39)	M83K	probably damaging	Het
Kif27	G	A	13: 58,492,191 (GRCm39)	T316M	probably damaging	Het
Lad1	A	T	1: 135,753,531 (GRCm39)	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,502,442 (GRCm39)	H625L	probably benign	Het
Mast1	A	G	8: 85,655,875 (GRCm39)	V155A	probably benign	Het
Mast3	G	A	8: 71,238,864 (GRCm39)	T480M	probably damaging	Het
Mpc1	C	T	17: 8,512,377 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,457,380 (GRCm39)	M1606L	probably benign	Het
Myo1c	T	A	11: 75,551,139 (GRCm39)	L238*	probably null	Het
Nanog	T	G	6: 122,688,550 (GRCm39)	S44A	possibly damaging	Het
Neb	T	C	2: 52,039,165 (GRCm39)	Q6958R	probably benign	Het
Ngef	C	T	1: 87,405,283 (GRCm39)	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,661,471 (GRCm39)	V265A	probably benign	Het
Nr3c2	A	G	8: 77,634,872 (GRCm39)		probably null	Het
Olfm5	A	G	7: 103,809,685 (GRCm39)	S164P	probably benign	Het
Parvb	T	C	15: 84,188,106 (GRCm39)		probably null	Het
Pde4dip	G	T	3: 97,674,400 (GRCm39)	A172D	probably damaging	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,420,720 (GRCm39)	V155E	probably damaging	Het
Pinx1	T	G	14: 64,109,820 (GRCm39)	V124G	probably damaging	Het
Poglut1	A	G	16: 38,355,119 (GRCm39)	Y236H	probably damaging	Het
Pou4f2	T	A	8: 79,163,030 (GRCm39)	M2L	unknown	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Pramel26	C	T	4: 143,538,519 (GRCm39)	E151K	probably damaging	Het
Prkaca	A	G	8: 84,717,499 (GRCm39)	N209S	probably benign	Het
Ring1	G	A	17: 34,242,361 (GRCm39)	P49S	probably damaging	Het
Rnf20	T	A	4: 49,633,412 (GRCm39)		probably null	Het
Rnf25	G	A	1: 74,633,099 (GRCm39)	R418C	probably damaging	Het
Ryr1	G	T	7: 28,808,707 (GRCm39)	P462Q	probably damaging	Het
Serpinb3d	A	G	1: 107,006,008 (GRCm39)	F360S	probably damaging	Het
Setd7	T	C	3: 51,428,843 (GRCm39)	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,320,156 (GRCm39)		probably null	Het
Snap91	G	A	9: 86,655,654 (GRCm39)	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,404,424 (GRCm39)		noncoding transcript	Het
Son	T	A	16: 91,455,756 (GRCm39)	V1501E	probably damaging	Het
Syncrip	T	A	9: 88,361,905 (GRCm39)	E70V	probably damaging	Het
Tas2r125	A	G	6: 132,886,750 (GRCm39)	D46G	probably damaging	Het
Tmem115	G	A	9: 107,412,156 (GRCm39)	R160Q	probably benign	Het
Trerf1	G	A	17: 47,630,581 (GRCm39)		noncoding transcript	Het
Tut7	A	G	13: 59,920,698 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,266,466 (GRCm39)		probably null	Het
Ush2a	G	T	1: 188,282,076 (GRCm39)	V1864F	probably benign	Het
Xkr4	A	T	1: 3,286,714 (GRCm39)	V492D	probably damaging	Het
Zfp646	T	A	7: 127,482,649 (GRCm39)	S1609T	possibly damaging	Het
Zfp65	A	T	13: 67,856,477 (GRCm39)	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,791,614 (GRCm39)	S176P	probably damaging	Het
Zfp747	C	T	7: 126,974,971 (GRCm39)	A10T	probably damaging	Het
Zfp850	T	C	7: 27,684,411 (GRCm39)		probably null	Het

Other mutations in Itga2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Itga2b	APN	11	102,346,409 (GRCm39)	missense	probably damaging	1.00
IGL02197:Itga2b	APN	11	102,357,145 (GRCm39)	missense	probably benign	0.19
IGL02349:Itga2b	APN	11	102,352,189 (GRCm39)	missense	probably damaging	0.98
IGL02711:Itga2b	APN	11	102,356,551 (GRCm39)	missense	possibly damaging	0.53
R0282:Itga2b	UTSW	11	102,351,672 (GRCm39)	missense	probably damaging	0.99
R0349:Itga2b	UTSW	11	102,358,252 (GRCm39)	missense	probably damaging	0.98
R0384:Itga2b	UTSW	11	102,356,188 (GRCm39)	splice site	probably null
R0403:Itga2b	UTSW	11	102,358,152 (GRCm39)	critical splice donor site	probably null
R0452:Itga2b	UTSW	11	102,356,779 (GRCm39)	splice site	probably null
R0535:Itga2b	UTSW	11	102,348,359 (GRCm39)	missense	possibly damaging	0.65
R1412:Itga2b	UTSW	11	102,347,831 (GRCm39)	missense	probably benign	0.00
R1517:Itga2b	UTSW	11	102,357,151 (GRCm39)	nonsense	probably null
R1615:Itga2b	UTSW	11	102,350,963 (GRCm39)	critical splice donor site	probably null
R1716:Itga2b	UTSW	11	102,351,603 (GRCm39)	missense	probably benign	0.30
R1953:Itga2b	UTSW	11	102,349,009 (GRCm39)	missense	probably benign	0.18
R2001:Itga2b	UTSW	11	102,358,165 (GRCm39)	missense	probably benign
R2216:Itga2b	UTSW	11	102,358,692 (GRCm39)	missense	probably benign	0.35
R4193:Itga2b	UTSW	11	102,360,511 (GRCm39)	missense	probably benign	0.01
R4805:Itga2b	UTSW	11	102,358,692 (GRCm39)	missense	probably benign	0.00
R4880:Itga2b	UTSW	11	102,348,548 (GRCm39)	intron	probably benign
R4906:Itga2b	UTSW	11	102,351,985 (GRCm39)	missense	probably benign	0.43
R5112:Itga2b	UTSW	11	102,349,017 (GRCm39)	missense	probably damaging	0.99
R5362:Itga2b	UTSW	11	102,351,961 (GRCm39)	missense	probably damaging	0.99
R5739:Itga2b	UTSW	11	102,356,735 (GRCm39)	missense	probably benign	0.14
R5761:Itga2b	UTSW	11	102,357,100 (GRCm39)	missense	probably benign	0.00
R5840:Itga2b	UTSW	11	102,352,157 (GRCm39)	missense	probably damaging	1.00
R5851:Itga2b	UTSW	11	102,348,427 (GRCm39)	intron	probably benign
R6239:Itga2b	UTSW	11	102,356,144 (GRCm39)	missense	possibly damaging	0.61
R6491:Itga2b	UTSW	11	102,350,695 (GRCm39)	splice site	probably null
R7426:Itga2b	UTSW	11	102,347,120 (GRCm39)	missense	probably benign	0.01
R7635:Itga2b	UTSW	11	102,352,582 (GRCm39)	missense	probably damaging	1.00
R7664:Itga2b	UTSW	11	102,351,666 (GRCm39)	missense	probably damaging	1.00
R7832:Itga2b	UTSW	11	102,348,108 (GRCm39)	missense	probably damaging	0.98
R8120:Itga2b	UTSW	11	102,360,368 (GRCm39)	missense	probably damaging	0.98
R8254:Itga2b	UTSW	11	102,358,212 (GRCm39)	missense	probably benign	0.16
R8296:Itga2b	UTSW	11	102,351,985 (GRCm39)	missense	possibly damaging	0.79
R8362:Itga2b	UTSW	11	102,352,189 (GRCm39)	missense	probably damaging	1.00
R8815:Itga2b	UTSW	11	102,351,687 (GRCm39)	missense	possibly damaging	0.91
R8901:Itga2b	UTSW	11	102,351,630 (GRCm39)	missense	probably damaging	0.99
R8985:Itga2b	UTSW	11	102,356,288 (GRCm39)	intron	probably benign
R9277:Itga2b	UTSW	11	102,351,982 (GRCm39)	missense	probably damaging	1.00
R9335:Itga2b	UTSW	11	102,346,478 (GRCm39)	missense	probably damaging	0.99
R9496:Itga2b	UTSW	11	102,358,629 (GRCm39)	missense	probably damaging	1.00
R9779:Itga2b	UTSW	11	102,348,147 (GRCm39)	missense	probably damaging	1.00
Z1177:Itga2b	UTSW	11	102,357,902 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCTCCATGCAATACCACGG -3'
(R):5'- AAGGAGACCTGGATCCTTCC -3'

Sequencing Primer
(F):5'- CATGCAATACCACGGCAGGG -3'
(R):5'- GAGACCTGGATCCTTCCTGCTTG -3'

Posted On

2015-12-29